Annotation Detail
Information
- Associated Genes
- NOTCH1
- Associated Variants
-
NOTCH1 p.Arg1672Cys (p.R1672C)
(
ENST00000651671.1,
ENST00000680133.1,
ENST00000680218.1,
ENST00000680668.1,
ENST00000680778.1 )
NOTCH1 p.Arg1672Cys (p.R1672C) ( ENST00000651671.1, ENST00000680133.1, ENST00000680218.1, ENST00000680668.1, ENST00000680778.1 ) - Associated Disease
- Adams-Oliver syndrome 5
- Source Database
- ClinVar
- Description
- NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) AND Adams-Oliver syndrome 5
- ClinVar Allele ID
- 224369
- ClinVar RefSeq Alternation Syntax
- NM_017617.5:c.5014C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-09-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002517402
- ClinVar Disease
- Adams-Oliver syndrome 5
- Observed Origin Sample
- germline
Drugs